catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117156287AT/A


CFTR-NGS Variant details:
Name NM_000492.4:c.273+7101delT
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117156297del    UCSC    
#Exon/intron intron 3
Type in CFTR-NGS catalogue repeat
Class in CFTR-France not reported
WT sequence TTCCAAAGGTTCAGCATTTTTTTTT T GTTAACTCTGCTGGGATCTGCTTTA
Mutant sequence TTCCAAAGGTTCAGCATTTTTTTTT - GTTAACTCTGCTGGGATCTGCTTTA


Additional information:
MAF (GnomAD) 1.19e-03
Splicing prediction (SpliceAI) AG: 0.00 (-7)
AL: 0.00 (-25)
DG: 0.00 (-8)
DL: 0.00 (-27)




External sources:

Not found
Not found		dbSNP
no rs
Not found

Variant validation:
Sanger
(present/not present/not verified)
 Minigene
(effect/no effect/not performed)
not verifiednot performed



No patient found in CFTR-France


2 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 2
CF 2



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m6426CFMontpellier230414_varilhheterozygous PASS 3534 377
P1BCFMontpellier230414_varilhheterozygous PASS 3709 379





Go to CFTRare
VLMCHUUM